II. Epidemiology

  1. Incidence: 1 in 40,000 births
  2. Most common etiology for short-limb syndrome

III. Pathophysiology

  1. Hereditary (Autosomal Dominant)
  2. Disease of cartilage and endochondral bone growth

IV. Signs

  1. Facial features
    1. Recessed Nasal Bridge
    2. Large brachiocephalic head (prominent forehead)
    3. Prominent jaw
  2. Trunk and spine features
    1. Normal trunk
    2. Dorsal kyphosis
    3. Backward-tilting Sacrum
    4. Slight Abdominal Distention
  3. Limb features
    1. Rhizomelic limb shortening
    2. Short muscular limbs
    3. Stubby hands with thick fingers

V. Associated conditions

  1. Eustachian Tube Dysfunction
  2. Sleep Apnea
  3. Hydrocephalus (infants)
  4. Lumbosacral spinal stenosis

VI. Radiology: Skeletal XRay

  1. Short bowed wide bones with expanded ends
  2. Increased bone density
  3. Characteristic cupping of metaphases
  4. Incomplete glenoid fossa and acetabulum
  5. Wide joint spaces

VII. Course

  1. Adult height: 4 feet
  2. Normal intelligence development

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